Patient groups: our strongest weapon against rare diseases

Patient groups: our strongest weapon against rare diseases
© Findacure and Barbara Asboth Photography

Findacure CEO Rick Thompson sets out the crucial role of patient groups in developing new treatments for rare diseases.

Rare diseases are defined in Europe as those that affect fewer than one in 2,000 people, but their collective impact is much larger: altogether, some 350 million people live with a rare disease, 3.5 million of them in the UK.

Rare disease patients face a series of obstacles to getting help for their condition, including low patient numbers, limited knowledge, small markets for drug developers and a lack of funding, which contribute to a scarcity of research and medicines. As a result, only 400 treatments have been licensed for the roughly 7,000 rare diseases identified.

UK charity Findacure believes that patient groups have a key role to play in changing this landscape, and is working to build a strong, unified patient community that acts together to drive research, develop treatments, and ultimately improve the lives of all those living with a rare disease. CEO Rick Thompson tells Health Europa more.

Although 7,000 rare diseases have been identified, only 400 have a licensed treatment – what has held back progress here?

That’s a big question with a number of different answers. For a long time, a lack of incentives to work on rare diseases has been a major issue in holding back the development of treatments. Rarity itself is a big problem as it results in a small patient population. From an industry perspective, that means a small market in which to sell any new medicines, which appears to make for a less attractive business proposition than a larger market. It goes without saying that initial efforts are going to be focused on larger, more prevalent conditions.

The launch of the orphan drug legislation has gone some way to removing that challenge by creating an incentive for companies to begin working in the orphan drug space, for example by helping to secure a degree of market and data exclusivity beyond the general protection provided by patents. That has certainly helped to ensure that more companies are interested in rare diseases, which is fantastic.

Continuing issues stem from the fact that the core understanding of certain rare diseases still isn’t there. There needs to be researchers and scientists with some level of understanding or interest in rare diseases, but a lack of visibility really holds that back. If a disease isn’t visible, if it isn’t ‘sexy’ in the realm of academia, then it is unlikely that we are going to find anyone interested in looking at one of these 7,000 conditions, and without that basic work being done, we are never going to get to the point where a pharma company can begin to think about developing a drug. All we can do is wait for someone somewhere to hopefully notice something about a rare disease pathway or by chance spot something that might treat that condition.

Why does Findacure believe drug repurposing is such a good option for rare diseases?

Repurposing is essentially about finding new uses for old medicines. I have already discussed why the knowledge gap in rare diseases makes the identification and development of orphan drugs tough. What makes that even harder is having to develop new compounds, because there is another knowledge gap there. If you work with a compound that you’re already familiar with, however, you can actually fill in some of that gap.

You already know something about the existing compound’s mode of action, safety profile and potential benefits, and if it is a generic compound, you already know something about its impact on a diverse group of people – it has already been used for a long period of time in lots of different patients across several age ranges and multiple different indications.

That means you can be more confident in the drug you are looking at. It can also help to streamline the development process. Not only can you identify potential candidates much more simply, but you can also screen a smaller number of candidates, which means you don’t have to spend as much time or money on development, two things that are already in short supply for orphan drugs.

Research into drug repurposing is also perhaps more accessible to academic-led collaborations, to small biotech companies and to funding from patient organisations. Discovering a completely new compound requires instant engagement from big pharma industry, whereas repurposing doesn’t necessarily require that – even if ultimately down the line it might go into that area.

There are only around 400 licensed treatments for roughly 7,000 rare diseases, which means there are a huge number of patients with very little hope of ever seeing something that will benefit them. When it comes to rare diseases, then, what you want is to find a way to address that situation as quickly as possible, and repurposing to our mind gives you the potential to do that, because it affords many different stakeholders the chance to begin to explore that area of research. Hopefully in the next few years we’ll see more and more repurposed treatments delivering benefits to patients with rare diseases.

What role is there for patients to play in rare disease research?

Since social media has become so omnipresent, there has been a real growth in patients with rare diseases becoming connected to one another. It has really helped to remove some of the isolation that patients living with rare diseases feel because it allows them to talk to people anywhere in the world with similar experiences. What that has done is it’s fuelled the growth of patient groups and patient communities. That in itself has generated a small measure of increased awareness.

Because many of these groups’ primary aim is to find improved treatment, improved care or improved understanding, they are often involved in finding doctors who might know something or be able to begin to think in some meaningful way about a rare disease, which is beginning to increase the number of people out there in the medical profession with an understanding of these conditions. That is increasing the likelihood of any given disease getting that lucky break needed to kick off drug development.

That is just the tip of the iceberg: as patient groups become more formalised and more organised, they can begin to target researchers and companies in order to try and drive forward their engagement with rare diseases. They can also begin to build up a collection of their own data and information about these conditions, as well, which builds up the knowledge base and increases the chances of a treatment being developed.

A number of patient groups have gone down this route, essentially priming their rare disease for research. That can be in the form of simply raising money to fund a PhD student or research project, or even securing European funding to run a clinical trial. Duchenne UK and Reverse Rett are good examples of organisations that are already working in this way.

Building on that, if patients are trained, professional and knowledgeable, there are a huge number of things they can do to support the trials themselves.

For example, they can advise on and support the development of a trial protocol that will work for patients, i.e. one that understands the burden of the trial on the patient; they can help to ensure that patients can get to the trial site; and they can raise money to provide financial support for patients to participate – all of which improve trial recruitment and retention. Beyond the trial completion, they can also help to secure licensing and reimbursement for the drugs that are developed.

We hope to see patient involvement in this way really grow. It’s certainly something that industry is increasingly aware of, and we’ve already seen a few examples of it happening successfully.

How does Findacure work to support the professionalisation of patient groups?

There is a huge spectrum of patient groups out there – from those that are exceptionally professional and have a wealth of experience, be it in HTA approval, NICE assessments, clinical trial funding or EU research funding, to groups that are little more than a collection of parents or patients on Facebook. All of them contribute something to the community.

What we try and do at Findacure is connect those groups to build a unified rare disease community that can learn from one another, share their experiences, and, in doing so, drive progress for rare disease patients and raise awareness in wider society that rare diseases as a collective are a major public health issue and need to be addressed – in much the same way that cancer is a cluster of several different diseases, many of which are themselves rare, but is viewed as a single entity that we need to address.

To that end, we run face-to-face workshops, events, webinars, and a peer mentoring scheme in which we link together newer and more established patient groups in order to help them grow. We also run an e-learning portal and deliver specific training that can help these groups – whether large or small – to build a charity and become more professional.

It’s all about getting patients in the same room as each other and on the same footing as different members of the rare disease space, be they academics, clinicians, pharma companies, or life science consultancies. That way, we hope to break down the walls that exist between them and find new, meaningful ways to support our patient populations, engage the research community, and drive things forward for rare diseases.

Meet Wendy

Findacure met Wendy in 2016. Wendy’s son was born with Norrie disease, a rare disease that causes blindness, hearing loss, and developmental delays. Wendy was told there were only six UK families affected and, unfortunately, like so many others, she found there was no organisation for her to turn to for support and information.

Determined to help others herself, she wanted to set up a Norrie disease patient group but was in desperate need of Findacure’s guidance on how to register as a charity and progress. Wendy joined Findacure’s peer mentoring scheme in 2016 and was assigned Kamlesh, a pharmaceutical consultant, as a mentor. Over the year they worked together Wendy:

  • Made contact with over 30 UK families affected by Norrie disease, after being told at diagnosis that there were only six
  • Secured full charity status for the Norrie Disease Foundation (NDF)
  • Set up a new scientific advisory panel
  • Ran a launch event for the charity, patients and families
  • Secured a PhD student to research Norrie disease at University College London.

The Norrie Disease Foundation is now a fully established and active UK patient group, connecting patients to one another, building a research community, and collaborating with Europe and the world. Their sights are firmly set on driving research in Norrie disease to benefit patients in the future.

Rick Thompson
Tweet @findacure_fdn

Please note, this article will appear in issue 8 of Health Europa Quarterly, which will be published in February 2019.

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